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What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ?
|
What are the signs and symptoms of Lethal short limb skeletal dysplasia Al Gazali type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal - Autosomal recessive inheritance - Bilateral talipes equinovarus - Lethal skeletal dysplasia - Limb undergrowth - Macrocephaly - Mesomelia - Opacification of the corneal stroma - Platyspondyly - Shortening of all metacarpals - Shortening of all phalanges of fingers - Wide anterior fontanel - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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Do you have information about Organ Donation
|
Summary : Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include - Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs - Skin - Bone and bone marrow - Cornea Most organ and tissue donations occur after the donor has died. But some organs and tissues can be donated while the donor is alive. People of all ages and background can be organ donors. If you are under age 18, your parent or guardian must give you permission to become a donor. If you are 18 or older you can show you want to be a donor by signing a donor card. You should also let your family know your wishes. Health Resources and Services Administration
|
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What are the symptoms of Schneckenbecken dysplasia ?
|
What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the metaphyses 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Short neck 90% Sprengel anomaly 90% Abnormality of the fingernails 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplastic toenails 50% Accelerated skeletal maturation 7.5% Cleft palate 7.5% Tarsal synostosis 7.5% Advanced ossification of carpal bones - Advanced tarsal ossification - Anterior rib cupping - Autosomal recessive inheritance - Brachydactyly syndrome - Disproportionate short-limb short stature - Dumbbell-shaped long bone - Flat acetabular roof - Flat midface - Hypoplastic scapulae - Lateral clavicle hook - Metaphyseal irregularity - Ovoid vertebral bodies - Short ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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What are the symptoms of White sponge nevus of cannon ?
|
What are the signs and symptoms of White sponge nevus of cannon? The Human Phenotype Ontology provides the following list of signs and symptoms for White sponge nevus of cannon. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Oral leukoplakia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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What is (are) Marinesco-Sjgren syndrome ?
|
Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjgren syndrome may experience further decline in muscle function later in life. Most people with Marinesco-Sjgren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature and a spine that curves to the side (scoliosis). Other features of Marinesco-Sjgren syndrome include eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and impaired speech (dysarthria). Affected individuals may have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, puberty is either delayed or absent.
|
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What is (are) Chromosome 8p deletion ?
|
Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
|
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How many people are affected by CHARGE syndrome ?
|
CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 individuals.
|
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What are the treatments for Filippi syndrome ?
|
How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals. In some affected individuals, treatment may include surgical repair of certain skeletal or other abnormalities associated with the disorder. The surgical procedures performed will depend upon the severity of the abnormalities, their associated symptoms, and other factors.
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How to prevent Problems with Taste ?
|
Problems with taste that occur with aging cannot be prevented. However you may be able to protect yourself against other causes of taste loss with these steps. - Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. - Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. - Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year. Avoid Head Injuries. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Review Your Medications. If you are taking antibiotics or antihistamines or other medications and notice a change in your sense of taste, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with taste. Do not stop taking your medications unless directed by your doctor. Dont Smoke. It can impair the sense of taste. For free help to quit smoking, visit Smokefree.gov
|
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What are the treatments for Overweight and Obesity ?
|
Successful weight-loss treatments include setting goals and making lifestyle changes, such as eating fewer calories and being physically active. Medicines and weight-loss surgery also are options for some people if lifestyle changes aren't enough.
Set Realistic Goals
Setting realistic weight-loss goals is an important first step to losing weight.
For Adults
Try to lose 5 to 10 percent of your current weight over 6 months. This will lower your risk for coronary heart disease (CHD) and other conditions.
The best way to lose weight is slowly. A weight loss of 1 to 2 pounds a week is do-able, safe, and will help you keep off the weight. It also will give you the time to make new, healthy lifestyle changes.
If you've lost 10 percent of your body weight, have kept it off for 6 months, and are still overweight or obese, you may want to consider further weight loss.
For Children and Teens
If your child is overweight or at risk for overweight or obesity, the goal is to maintain his or her current weight and to focus on eating healthy and being physically active. This should be part of a family effort to make lifestyle changes.
If your child is overweight or obese and has a health condition related to overweight or obesity, your doctor may refer you to a pediatric obesity treatment center.
Lifestyle Changes
Lifestyle changes can help you and your family achieve long-term weight-loss success. Example of lifestyle changes include:
Focusing on balancing energy IN (calories from food and drinks) with energy OUT (physical activity)
Following a healthy eating plan
Learning how to adopt healthy lifestyle habits
Over time, these changes will become part of your everyday life.
Calories
Cutting back on calories (energy IN) will help you lose weight. To lose 1 to 2pounds a week, adults should cut back their calorie intake by 500 to 1,000calories a day.
In general, having 1,000 to 1,200 calories a day will help most women lose weight safely.
In general, having 1,200 to 1,600 calories a day will help most men lose weight safely. This calorie range also is suitable for women who weigh 165pounds or more or who exercise routinely.
These calorie levels are a guide and may need to be adjusted. If you eat 1,600calories a day but don't lose weight, then you may want to cut back to 1,200calories. If you're hungry on either diet, then you may want to add 100 to 200calories a day.
Very low-calorie diets with fewer than 800 calories a day shouldn't be used unless your doctor is monitoring you.
For overweight children and teens, it's important to slow the rate of weight gain. However, reduced-calorie diets aren't advised unless you talk with a health care provider.
Healthy Eating Plan
A healthy eating plan gives your body the nutrients it needs every day. It has enough calories for good health, but not so many that you gain weight.
A healthy eating plan is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugar. Following a healthy eating plan will lower your risk for heart disease and other conditions.
Healthy foods include:
Fat-free and low-fat dairy products, such as low-fat yogurt, cheese, and milk.
Protein foods, such as lean meat, fish, poultry without skin, beans, and peas.
Whole-grain foods, such as whole-wheat bread, oatmeal, and brown rice. Other grain foods include pasta, cereal, bagels, bread, tortillas, couscous, and crackers.
Fruits, which can be fresh, canned, frozen, or dried.
Vegetables, which can be fresh, canned (without salt), frozen, or dried.
Canola and olive oils, and soft margarines made from these oils, are heart healthy. However, you should use them in small amounts because they're high in calories.
You also can include unsalted nuts, like walnuts and almonds, in your diet as long as you limit the amount you eat (nuts also are high in calories).
The National Heart, Lung, and Blood Institute's "Aim for a Healthy Weight" patient booklet provides more information about following a healthy eating plan.
Foods to limit. Foods that are high in saturated and trans fats and cholesterol raise blood cholesterol levels and also might be high in calories. Fats and cholesterol raise your risk for heart disease, so they should be limited.
Saturated fat is found mainly in:
Fatty cuts of meat, such as ground beef, sausage, and processed meats (for example, bologna, hot dogs, and deli meats)
Poultry with the skin
High-fat dairy products like whole-milk cheeses, whole milk, cream, butter, and ice cream
Lard, coconut, and palm oils, which are found in many processed foods
Trans fat is found mainly in:
Foods with partially hydrogenated oils, such as many hard margarines and shortening
Baked products and snack foods, such as crackers, cookies, doughnuts, and breads
Foods fried in hydrogenated shortening, such as french fries and chicken
Cholesterol mainly is found in:
Egg yolks
Organ meats, such as liver
Shrimp
Whole milk or whole-milk products, such as butter, cream, and cheese
Limiting foods and drinks with added sugars, like high-fructose corn syrup, is important. Added sugars will give you extra calories without nutrients like vitamins and minerals. Added sugars are found in many desserts, canned fruit packed in syrup, fruit drinks, and nondiet drinks.
Check the list of ingredients on food packages for added sugars like high-fructose corn syrup. Drinks that contain alcohol also will add calories, so it's a good idea to limit your alcohol intake.
Portion size. A portion is the amount of food that you choose to eat for a meal or snack. It's different from a serving, which is a measured amount of food and is noted on the Nutrition Facts label on food packages.
Anyone who has eaten out lately is likely to notice how big the portions are. In fact, over the past 40 years, portion sizes have grown significantly. These growing portion sizes have changed what we think of as a normal portion.
Cutting back on portion size is a good way to eat fewer calories and balance your energy IN.
Food weight. Studies have shown that we all tend to eat a constant "weight" of food. Ounce for ounce, our food intake is fairly consistent. Knowing this, you can lose weight if you eat foods that are lower in calories and fat for a given amount of food.
For example, replacing a full-fat food product that weighs 2 ounces with a low-fat product that weighs the same helps you cut back on calories. Another helpful practice is to eat foods that contain a lot of water, such as vegetables, fruits, and soups.
Physical Activity
Being physically active and eating fewer calories will help you lose weight and keep weight off over time. Physical activity also will benefit you in other ways. It will:
Lower your risk for heart disease, heart attack, diabetes, and cancers (such as breast, uterine, and colon cancers)
Strengthen your heart and help your lungs work better
Strengthen your muscles and keep your joints in good condition
Slow bone loss
Give you more energy
Help you relax and better cope with stress
Allow you to fall asleep more quickly and sleep more soundly
Give you an enjoyable way to share time with friends and family
The four main types of physical activity are aerobic, muscle-strengthening, bone strengthening, and stretching. You can do physical activity with light, moderate, or vigorous intensity. The level of intensity depends on how hard you have to work to do the activity.
People vary in the amount of physical activity they need to control their weight. Many people can maintain their weight by doing 150 to 300 minutes (2 hours and 30 minutes to 5 hours) of moderate-intensity activity per week, such as brisk walking.
People who want to lose a large amount of weight (more than 5 percent of their body weight) may need to do more than 300 minutes of moderate-intensity activity per week. This also may be true for people who want to keep off weight that they've lost.
You don't have to do the activity all at once. You can break it up into short periods of at least 10 minutes each.
If you have a heart problem or chronic disease, such as heart disease, diabetes, or high blood pressure, talk with your doctor about what types of physical activity are safe for you. You also should talk with your doctor about safe physical activities if you have symptoms such as chest pain or dizziness.
Children should get at least 60 minutes or more of physical activity every day. Most physical activity should be moderate-intensity aerobic activity. Activity should vary and be a good fit for the child's age and physical development.
Many people lead inactive lives and might not be motivated to do more physical activity. When starting a physical activity program, some people may need help and supervision to avoid injury.
If you're obese, or if you haven't been active in the past, start physical activity slowly and build up the intensity a little at a time.
When starting out, one way to be active is to do more everyday activities, such as taking the stairs instead of the elevator and doing household chores and yard work. The next step is to start walking, biking, or swimming at a slow pace, and then build up the amount of time you exercise or the intensity level of the activity.
To lose weight and gain better health, it's important to get moderate-intensity physical activity. Choose activities that you enjoy and that fit into your daily life.
A daily, brisk walk is an easy way to be more active and improve your health. Use a pedometer to count your daily steps and keep track of how much you're walking. Try to increase the number of steps you take each day. Other examples of moderate-intensity physical activity include dancing, gardening, and water aerobics.
For greater health benefits, try to step up your level of activity or the length of time you're active. For example, start walking for 10 to 15 minutes three times a week, and then build up to brisk walking for 60 minutes, 5 days a week.
For more information about physical activity, go to the Department of Health and Human Services "2008 Physical Activity Guidelines for Americans" and the Health Topics Physical Activity and Your Heart article.
Behavioral Changes
Changing your behaviors or habits related to food and physical activity is important for losing weight. The first step is to understand which habits lead you to overeat or have an inactive lifestyle. The next step is to change these habits.
Below are some simple tips to help you adopt healthier habits.
Change your surroundings. You might be more likely to overeat when watching TV, when treats are available at work, or when you're with a certain friend. You also might find it hard to motivate yourself to be physically active. However, you can change these habits.
Instead of watching TV, dance to music in your living room or go for a walk.
Leave the office break room right after you get a cup of coffee.
Bring a change of clothes to work. Head straight to an exercise class on the way home from work.
Put a note on your calendar to remind yourself to take a walk or go to your exercise class.
Keep a record. A record of your food intake and the amount of physical activity that you do each day will help inspire you. You also can keep track of your weight. For example, when the record shows that you've been meeting your physical activity goals, you'll want to keep it up. A record also is an easy way to track how you're doing, especially if you're working with a registered dietitian or nutritionist.
Seek support. Ask for help or encouragement from your friends, family, and health care provider. You can get support in person, through e-mail, or by talking on the phone. You also can join a support group.
Reward success. Reward your success for meeting your weight-loss goals or other achievements with something you would like to do, not with food. Choose rewards that you'll enjoy, such as a movie, music CD, an afternoon off from work, a massage, or personal time.
Weight-Loss Medicines
Weight-loss medicines approved by the Food and Drug Administration (FDA) might be an option for some people.
If you're not successful at losing 1 pound a week after 6months of using lifestyle changes, medicines may help. You should only use medicines as part of a program that includes diet, physical activity, and behavioral changes.
Weight-loss medicines might be suitable for adults who are obese (a BMI of 30 or greater). People who have BMIs of 27 or greater, and who are at risk for heart disease and other health conditions, also may benefit from weight-loss medicines.
Sibutramine (Meridia)
As of October 2010, the weight-loss medicine sibutramine (Meridia) was taken off the market in the United States. Research showed that the medicine may raise the risk of heart attack and stroke.
Orlistat (Xenical and Alli)
Orlistat (Xenical) causes a weight loss between 5 and 10 pounds, although some people lose more weight. Most of the weight loss occurs within the first 6 months of taking the medicine.
People taking Xenical need regular checkups with their doctors, especially during the first year of taking the medicine. During checkups, your doctor will check your weight, blood pressure, and pulse and may recommend other tests. He or she also will talk with you about any medicine side effects and answer your questions.
The FDA also has approved Alli, an over-the-counter (OTC) weight-loss aid for adults. Alli is the lower dose form of orlistat. Alli is meant to be used along with a reduced-calorie, low-fat diet and physical activity. In studies, most people taking Alli lost 5 to 10pounds over 6 months.
Both Xenical and Alli reduce the absorption of fats, fat calories, and vitamins A, D, E, and K to promote weight loss. Both medicines also can cause mild side effects, such as oily and loose stools.
Although rare, some reports of liver disease have occurred with the use of orlistat. More research is needed to find out whether the medicine plays a role in causing liver disease. Talk with your doctor if youre considering using Xenical or Alli to lose weight. He or she can discuss the risks and benefits with you.
You also should talk with your doctor before starting orlistat if youre taking blood-thinning medicines or being treated for diabetes or thyroid disease. Also, ask your doctor whether you should take a multivitamin due to the possible loss of some vitamins.
Lorcaserin Hydrochloride (Belviq) and Qsymia
In July 2012, the FDA approved two new medicines for chronic (ongoing) weight management. Lorcaserin hydrochloride (Belviq) and Qsymia are approved for adults who have a BMI of 30 or greater. (Qsymia is a combination of two FDA-approved medicines: phentermine and topiramate.)
These medicines also are approved for adults with a BMI of 27 or greater who have at least one weight-related condition, such as high blood pressure, type 2 diabetes, or high blood cholesterol.
Both medicines are meant to be used along with a reduced-calorie diet and physical activity.
Other Medicines
Some prescription medicines are used for weight loss, but aren't FDA-approved for treating obesity. They include:
Medicines to treat depression. Some medicines for depression cause an initial weight loss and then a regain of weight while taking the medicine.
Medicines to treat seizures. Two medicines used for seizures, topiramate and zonisamide, have been shown to cause weight loss. These medicines are being studied to see whether they will be useful in treating obesity.
Medicines to treat diabetes. Metformin may cause small amounts of weight loss in people who have obesity and diabetes. It's not known how this medicine causes weight loss, but it has been shown to reduce hunger and food intake.
Over-the-Counter Products
Some OTC products claim to promote weight loss. The FDA doesn't regulate these products because they're considered dietary supplements, not medicines.
However, many of these products have serious side effects and generally aren't recommended. Some of these OTC products include:
Ephedra (also called ma huang). Ephedra comes from plants and has been sold as a dietary supplement. The active ingredient in the plant is called ephedrine. Ephedra can cause short-term weight loss, but it also has serious side effects. It causes high blood pressure and stresses the heart. In 2004, the FDA banned the sale of dietary supplements containing ephedra in the United States.
Chromium. This is a mineral that's sold as a dietary supplement to reduce body fat. While studies haven't found any weight-loss benefit from chromium, there are few serious side effects from taking it.
Diuretics and herbal laxatives. These products cause you to lose water weight, not fat. They also can lower your body's potassium levels, which may cause heart and muscle problems.
Hoodia. Hoodia is a cactus that's native to Africa. It's sold in pill form as an appetite suppressant. However, no firm evidence shows that hoodia works. No large-scale research has been done on humans to show whether hoodia is effective or safe.
Weight-Loss Surgery
Weight-loss surgery might be an option for people who have extreme obesity (BMI of 40 or more) when other treatments have failed.
Weight-loss surgery also is an option for people who have a BMI of 35 or more and life-threatening conditions, such as:
Severe sleep apnea (a condition in which you have one or more pauses in breathing or shallow breaths while you sleep)
Obesity-related cardiomyopathy (KAR-de-o-mi-OP-ah-thee; diseases of the heart muscle)
Severe type 2 diabetes
Types of Weight-Loss Surgery
Two common weight-loss surgeries include banded gastroplasty and Roux-en-Y gastric bypass. For gastroplasty, a band or staples are used to create a small pouch at the top of your stomach. This surgery limits the amount of food and liquids the stomach can hold.
For gastric bypass, a small stomach pouch is created with a bypass around part of the small intestine where most of the calories you eat are absorbed. This surgery limits food intake and reduces the calories your body absorbs.
Weight-loss surgery can improve your health and weight. However, the surgery can be risky, depending on your overall health. Gastroplasty has few long-term side effects, but you must limit your food intake dramatically.
Gastric bypass has more side effects. They include nausea (feeling sick to your stomach), bloating, diarrhea, and faintness. These side effects are all part of a condition called dumping syndrome. After gastric bypass, you may need multivitamins and minerals to prevent nutrient deficiencies.
Lifelong medical followup is needed after both surgeries. Your doctor also may recommend a program both before and after surgery to help you with diet, physical activity, and coping skills.
If you think you would benefit from weight-loss surgery, talk with your doctor. Ask whether you're a candidate for the surgery and discuss the risks, benefits, and what to expect.
Weight-Loss Maintenance
Maintaining your weight loss over time can be a challenge. For adults, weight loss is a success if you lose at least 10 percent of your initial weight and you don't regain more than 6 or 7 pounds in 2 years. You also must keep a lower waist circumference (at least 2 inches lower than your waist circumference before you lost weight).
After 6 months of keeping off the weight, you can think about losing more if:
You've already lost 5 to 10 percent of your body weight
You're still overweight or obese
The key to losing more weight or maintaining your weight loss is to continue with lifestyle changes. Adopt these changes as a new way of life.
If you want to lose more weight, you may need to eat fewer calories and increase your activity level. For example, if you eat 1,600 calories a day but don't lose weight, you may want to cut back to 1,200 calories. It's also important to make physical activity part of your normal daily routine.
|
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15
] |
What are the treatments for 8p11 myeloproliferative syndrome ?
|
These resources address the diagnosis or management of 8p11 myeloproliferative syndrome: - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Treatment Options - Genetic Testing Registry: Chromosome 8p11 myeloproliferative syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What is (are) Polycystic Kidney Disease ?
|
Polycystic kidney disease is a genetic disorder that causes numerous cysts to grow in the kidneys. A kidney cyst is an abnormal sac filled with fluid. PKD cysts can greatly enlarge the kidneys while replacing much of their normal structure, resulting in chronic kidney disease (CKD), which causes reduced kidney function over time. CKD may lead to kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis. The two main types of PKD are autosomal dominant PKD and autosomal recessive PKD.
PKD cysts are different from the usually harmless simple cysts that often form in the kidneys later in life. PKD cysts are more numerous and cause complications, such as high blood pressure, cysts in the liver, and problems with blood vessels in the brain and heart.
|
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What are the treatments for Feingold syndrome ?
|
These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodenal Atresia - MedlinePlus Encyclopedia: Esophageal Atresia - MedlinePlus Encyclopedia: Microcephaly - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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How to diagnose Problems with Taste ?
|
Doctors can diagnose a taste disorder by measuring the lowest concentration of a substance that a person can detect. The doctor may also ask a patient to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. Scientists have developed taste tests in which a person responds to different concentrations of a substance. This may involve a simple "sip, spit, and rinse" test, or the application of a substance directly to the tongue with an eye dropper. By using these tests, your doctor can determine if you have a true taste disorder and what type it is.
|
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What is (are) Hennekam syndrome ?
|
Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels that are abnormally expanded (lymphangiectasia), particularly the vessels that transport lymph fluid to and from the intestines; puffiness or swelling caused by a buildup of fluid (lymphedema); and unusual facial features. Lymphangiectasia often impedes the flow of lymph fluid and can cause the affected vessels to break open (rupture). In the intestines, ruptured vessels can lead to accumulation of lymph fluid, which interferes with the absorption of nutrients, fats, and proteins. Accumulation of lymph fluid in the abdomen can cause swelling (chylous ascites). Lymphangiectasia can also affect the kidneys, thyroid gland, the outer covering of the lungs (the pleura), the membrane covering the heart (pericardium), or the skin. The lymphedema in Hennekam syndrome is often noticeable at birth and usually affects the face and limbs. Severely affected infants may have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). The lymphedema usually affects one side of the body more severely than the other (asymmetric) and slowly worsens over time. Facial features of people with Hennekam syndrome may include a flattened appearance to the middle of the face and the bridge of the nose, puffy eyelids, widely spaced eyes (hypertelorism), small ears, and a small mouth with overgrowth of the gums (gingival hypertrophy). Affected individuals may also have an unusually small head (microcephaly) and premature fusion of the skull bones (craniosynostosis). Individuals with Hennekam syndrome often have intellectual disability that ranges from mild to severe, although most are on the mild end of the range and some have normal intellect. Many individuals with Hennekam syndrome have growth delay, respiratory problems, permanently bent fingers and toes (camptodactyly), or fusion of the skin between the fingers and toes (cutaneous syndactyly). Abnormalities found in a few individuals with Hennekam syndrome include a moderate to severe shortage of red blood cells (anemia) resulting from an inadequate amount (deficiency) of iron in the bloodstream, multiple spleens (polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around the belly-button (umbilical hernia), heart abnormalities, hearing loss, excessive body hair growth (hirsutism), a narrow upper chest that may have a sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the spine (scoliosis), and inward- and upward-turning feet (clubfeet). The signs and symptoms of Hennekam syndrome vary widely among affected individuals, even those within the same family. Life expectancy depends on the severity of the condition and can vary from death in childhood to survival into adulthood.
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] |
What is (are) Sydenham Chorea ?
|
Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.
|
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] |
How to diagnose Bile Duct Cancer (Cholangiocarcinoma) ?
|
Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer. Procedures that make pictures of the bile ducts and the nearby area help diagnose bile duct cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within and around the bile ducts or to distant parts of the body is called staging. In order to plan treatment, it is important to know if the bile duct cancer can be removed by surgery. Tests and procedures to detect, diagnose, and stage bile duct cancer are usually done at the same time. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of bilirubin and alkaline phosphatase released into the blood by the liver. A higher than normal amount of these substances can be a sign of liver disease that may be caused by bile duct cancer. - Laboratory tests : Medical procedures that test samples of tissue, blood, urine, or other substances in the body. These tests help to diagnose disease, plan and check treatment, or monitor the disease over time. - Carcinoembryonic antigen (CEA) and CA 19-9 tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. Higher than normal levels of carcinoembryonic antigen (CEA) and CA 19-9 may mean there is bile duct cancer. - Ultrasound exam : A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the abdomen, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - MRCP (magnetic resonance cholangiopancreatography): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body such as the liver, bile ducts, gallbladder, pancreas, and pancreatic duct.
Different procedures may be used to obtain a sample of tissue and diagnose bile duct cancer. Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. Different procedures may be used to obtain the sample of cells and tissue. The type of procedure used depends on whether the patient is well enough to have surgery. Types of biopsy procedures include the following: - Laparoscopy : A surgical procedure to look at the organs inside the abdomen, such as the bile ducts and liver, to check for signs of cancer. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Other instruments may be inserted through the same or other incisions to perform procedures such as taking tissue samples to be checked for signs of cancer. - Percutaneous transhepatic cholangiography (PTC): A procedure used to x-ray the liver and bile ducts. A thin needle is inserted through the skin below the ribs and into the liver. Dye is injected into the liver or bile ducts and an x-ray is taken. A sample of tissue is removed and checked for signs of cancer. If the bile duct is blocked, a thin, flexible tube called a stent may be left in the liver to drain bile into the small intestine or a collection bag outside the body. This procedure may be used when a patient cannot have surgery. - Endoscopic retrograde cholangiopancreatography (ERCP): A procedure used to x-ray the ducts (tubes) that carry bile from the liver to the gallbladder and from the gallbladder to the small intestine. Sometimes bile duct cancer causes these ducts to narrow and block or slow the flow of bile, causing jaundice. An endoscope is passed through the mouth and stomach and into the small intestine. Dye is injected through the endoscope (thin, tube-like instrument with a light and a lens for viewing) into the bile ducts and an x-ray is taken. A sample of tissue is removed and checked for signs of cancer. If the bile duct is blocked, a thin tube may be inserted into the duct to unblock it. This tube (or stent) may be left in place to keep the duct open. This procedure may be used when a patient cannot have surgery.
|
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] |
What are the genetic changes related to Erdheim-Chester disease ?
|
More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder. The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). The BRAF gene mutation that causes Erdheim-Chester disease is somatic, which means that it occurs during a person's lifetime and is present only in certain cells. The mutation occurs in histiocytes or in immature precursor cells that will develop into histiocytes. This mutation leads to production of a BRAF protein that is abnormally active, which disrupts regulation of cell growth and division. The unregulated overproduction of histiocytes results in their accumulation in the body's tissues and organs, leading to the signs and symptoms of Erdheim-Chester disease. The BRAF gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. Researchers disagree on whether Erdheim-Chester disease should be considered a form of cancer because of the unregulated accumulation of histiocytes.
|
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] |
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What are the symptoms of Balance Problems ?
|
If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. You might experience other symptoms such as - dizziness or vertigo (a spinning sensation) - falling or feeling as if you are going to fall - lightheadedness, faintness, or a floating sensation - blurred vision - confusion or disorientation. dizziness or vertigo (a spinning sensation) falling or feeling as if you are going to fall lightheadedness, faintness, or a floating sensation blurred vision confusion or disorientation. Other symptoms might include nausea and vomiting, diarrhea, changes in heart rate and blood pressure, and fear, anxiety, or panic. Symptoms may come and go over short time periods or last for a long time, and can lead to fatigue and depression.
|
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What are the symptoms of Shingles ?
|
A week or two after the blisters erupt, the oozing sores will begin to crust over. The sores are usually gone after another two weeks. The pain usually decreases over the next few weeks, but some patients may have pain for months -- sometimes, for years.
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Is tetrasomy 18p inherited ?
|
Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family. However, rare inherited cases of tetrasomy 18p have been reported.
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Who is at risk for Breast Cancer? ?
|
What Is Cancer Prevention? Cancer prevention is action taken to lower the chance of getting cancer. By preventing cancer, the number of new cases of cancer in a group or population is lowered. Hopefully, this will lower the number of deaths caused by cancer. When studying ways to prevent cancer, scientists look at risk factors and protective factors. Anything that increases your chance of developing cancer is called a cancer risk factor. Anything that decreases your chance of developing cancer is called a cancer protective factor. Risk Factors Some risk factors for cancer can be avoided, but many cannot. For example, both smoking and inheriting certain genes are risk factors for some types of cancer, but only smoking can be avoided. Regular exercise and a healthy diet may be protective factors for some types of cancer. Avoiding risk factors and increasing protective factors may lower your risk but it does not mean that you will not get cancer. Different ways to prevent cancer are being studied, including - changing lifestyle or eating habits - avoiding things known to cause cancer - taking medicine to treat a precancerous condition or to keep cancer from starting. changing lifestyle or eating habits avoiding things known to cause cancer taking medicine to treat a precancerous condition or to keep cancer from starting. (For more on risk factors, see the chapter on "Risk Factors.") Here are protective factors for breast cancer. Less Exposure to Estrogen Decreasing the length of time a woman's breast tissue is exposed to estrogen may help lower her risk of developing breast cancer. Exposure to estrogen is reduced in the following ways. - Early pregnancy. Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. - Breast-feeding. Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. - Surgical removal of the ovaries. The ovaries make estrogen. The amount of estrogen made by the body can be greatly reduced by removing one or both ovaries. Also, drugs may be taken to lower the amount of estrogen made by the ovaries. - Late menstruation. Menstrual periods that start at age 14 or older decreases the number of years the breast tissue is exposed to estrogen. - Early menopause. The fewer years a woman menstruates, the shorter the time her breast tissue is exposed to estrogen. Early pregnancy. Estrogen levels are lower during pregnancy. Women who have a full-term pregnancy before age 20 have a lower risk of breast cancer than women who have not had children or who give birth to their first child after age 35. Breast-feeding. Estrogen levels may remain lower while a woman is breast-feeding. Women who breastfed have a lower risk of breast cancer than women who have had children but did not breastfeed. Surgical removal of the ovaries. The ovaries make estrogen. The amount of estrogen made by the body can be greatly reduced by removing one or both ovaries. Also, drugs may be taken to lower the amount of estrogen made by the ovaries. Late menstruation. Menstrual periods that start at age 14 or older decreases the number of years the breast tissue is exposed to estrogen. Early menopause. The fewer years a woman menstruates, the shorter the time her breast tissue is exposed to estrogen. Exercise Women who exercise four or more hours a week have a lower risk of breast cancer. The effect of exercise on breast cancer risk may be greatest in premenopausal women who have normal or low body weight. Learn more about the benefits of exercise for older adults. For exercises tailored to older adults, visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging (NIA) at NIH. Estrogen-only Hormone Therapy After Hysterectomy Hormone therapy with estrogen only may be given to women who have had a hysterectomy. In these women, estrogen-only therapy after menopause may decrease the risk of breast cancer. There is an increased risk of stroke and heart and blood vessel disease in postmenopausal women who take estrogen after a hysterectomy. Learn about menopausal hormone therapy and cancer. Selective Estrogen Receptor Modulators (SERMs) Tamoxifen and raloxifene belong to the family of drugs called selective estrogen receptor modulators (SERMs). SERMs act like estrogen on some tissues in the body, but block the effect of estrogen on other tissues. Treatment with tamoxifen or raloxifene lowers the risk of breast cancer in postmenopausal women. Tamoxifen also lowers the risk of breast cancer in high-risk premenopausal women. With either drug, the reduced risk lasts for several years after treatment is stopped. Lower rates of broken bones have been noted in patients taking raloxifene. Prophylactic Mastectomy Some women who have a high risk of breast cancer may choose to have a prophylactic mastectomy (the removal of both breasts when there are no signs of cancer). The risk of breast cancer is much lower in these women and most feel less anxious about their risk of breast cancer. However, it is very important to have cancer risk assessment and counseling about the different ways to prevent breast cancer before making this decision. Learn more about surgery to reduce the risk of breast cancer. Prophylactic Oophorectomy Premenopausal women who have a high risk of breast cancer due to certain changes in the BRCA1 and BRCA2 genes may choose to have a prophylactic oophorectomy (the removal of both ovaries when there are no signs of cancer). This decreases the amount of estrogen made by the body and lowers the risk of breast cancer. Prophylactic oophorectomy also lowers the risk of breast cancer in normal premenopausal women and in women with an increased risk of breast cancer due to radiation to the chest. However, it is very important to have cancer risk assessment and counseling before making this decision. The sudden drop in estrogen levels may cause the symptoms of menopause to begin. These include hot flashes, trouble sleeping, anxiety, and depression. Long-term effects include decreased sex drive, vaginal dryness, and decreased bone density. Unclear As Risk Factors It is not clear whether the following affect the risk of breast cancer. - Oral contraceptives. Taking oral contraceptives ("the pill") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Some oral contraceptives contain estrogen. Progestin-only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. - Environment. Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. Oral contraceptives. Taking oral contraceptives ("the pill") may slightly increase the risk of breast cancer in current users. This risk decreases over time. Some oral contraceptives contain estrogen. Progestin-only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer. Environment. Studies have not proven that being exposed to certain substances in the environment, such as chemicals, increases the risk of breast cancer. For More Information Clinical trials are taking place in many parts of the country. Information about clinical trials can be found at http://www.cancer.gov/clinicaltrials on the website of the National Cancer Institute (NCI). Check NCI's list of cancer clinical trials for breast cancer prevention trials that are now accepting patients.
|
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323,
5988,
2923,
12212,
7587,
326,
403,
1024,
18738,
1363,
15
] |
What is (are) Chanarin-Dorfman syndrome ?
|
Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.
|
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422,
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15
] |
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310,
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407,
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275,
253,
12056,
10536,
22,
3320,
285,
310,
20265,
275,
271,
48981,
24096,
422,
3102,
15
] |
How to diagnose Paget's Disease of Bone ?
|
An Underdiagnosed Disease Experts believe that Paget's disease is underdiagnosed; people with a mild case and no symptoms may never know they have the disease. Or, they may receive a diagnosis by accident when x-rays or other laboratory tests done for another reason reveal Paget's disease. When symptoms do occur, they usually appear gradually and, in the early stages, may be confused with those of arthritis or other medical problems. Sometimes a person may not receive a clear diagnosis until the disease progresses and complications develop. Diagnostic Tests X-rays are almost always used to diagnose Paget's disease, but the disease may be discovered using one of three tests: - x-rays - an alkaline phosphatase blood test - or a bone scan. x-rays an alkaline phosphatase blood test or a bone scan. Bones affected by Paget's disease have a distinctive appearance on x-rays, which may show increased bone density, an abnormal bone structure, bowing, and enlargement. X-rays of leg bones may show very tiny fractures called microfractures. The enzyme alkaline phosphatase is involved in the normal growth of new bone. Having higher-than-normal levels of this chemical in the blood, however, may be a sign of Paget's disease. The alkaline phosphatase blood test measures the level of this substance. A bone scan provides a picture of the affected bones that doctors can use to see how far the disease has progressed. If a bone scan done for another reason suggests Paget's disease, the doctor can order x-rays to confirm the diagnosis. If the Disease Runs in the Family Early diagnosis and treatment of Paget's disease is important. Because Paget's disease can be hereditary, some experts recommend that the brothers, sisters, and children of anyone with the disease talk to their doctor about having an alkaline phosphatase blood test every 2 to 3 years after about age 40.
|
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Who is at risk for Gout? ?
|
These risk factors are associated with gout. - Genetics. Many people with gout have a family history of the disease. - Gender and age. Gout is more common in men than in women and more common in adults than in children. - Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. (High levels of uric acid in the blood can lead to gout.) - Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. - Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. - Lead exposure. In some cases, exposure to lead in the environment can cause gout. Genetics. Many people with gout have a family history of the disease. Gender and age. Gout is more common in men than in women and more common in adults than in children. Weight. Being overweight increases the risk of developing gout because there is more tissue available for turnover or breakdown, which leads to excess uric acid production. (High levels of uric acid in the blood can lead to gout.) Alcohol consumption. Drinking too much alcohol can lead to a buildup of uric acid because alcohol interferes with the removal of uric acid from the body. Diet. Eating too many foods that are rich in purines such as liver, dried beans and peas, anchovies and gravies, can cause or aggravate gout in some people. Lead exposure. In some cases, exposure to lead in the environment can cause gout.
|
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] |
How to diagnose Dopa-responsive dystonia ?
|
How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one gene in which mutations are known to cause this form of DRD, but not all people with the disorder are found to have a mutation in the responsible gene. While finding a mutation may provide information about prognosis, it does not alter the treatment. Other types of laboratory tests, such as measuring specific substances or enzymes in the blood or cerebrospinal fluid (CSF), may be useful to support the diagnosis. For tyrosine hydroxylase deficiency, an autosomal recessive genetic cause of DRD, molecular genetic testing has confirmed the presence of mutations in all affected people to date. Specific laboratory tests performed on CSF help support the diagnosis but are not diagnostic on their own. For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in fibroblasts. Molecular genetic testing can identify mutations in the responsible gene and confirm the diagnosis of this form of DRD. The major conditions that may have a similar presentation to DRD and are part of the differential diagnosis include early-onset parkinsonism, early-onset primary dystonia, and cerebral palsy or spastic paraplegia. People with specific questions about being evaluated for any form of dystonia should speak with a neurologist or other health care provider.
|
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] |
What are the genetic changes related to spinocerebellar ataxia type 2 ?
|
Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the production of proteins from RNA (translation of DNA's genetic information). The ATXN2 gene mutations that cause SCA2 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated approximately 22 times within the gene, but it can be repeated up to 31 times without causing any health problems. Individuals with 32 or more CAG repeats in the ATXN2 gene develop SCA2. People with 32 or 33 repeats tend to first experience signs and symptoms of SCA2 in late adulthood, while people with more than 45 repeats usually have signs and symptoms by their teens. It is unclear how the abnormally long CAG segment affects the function of the ataxin-2 protein. The abnormal protein apparently leads to cell death, as people with SCA2 show loss of brain cells in different parts of the brain. Over time, the loss of brain cells causes the movement problems characteristic of SCA2.
|
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] |
Is Dentatorubral-pallidoluysian atrophy inherited ?
|
How is dentatorubral-pallidoluysian atrophy (DRPLA) inherited?
|
[
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46364,
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] |
What is (are) Tooth Disorders ?
|
Your teeth are made of a hard, bonelike material. Inside the tooth are nerves and blood vessels. You need your teeth for many activities you may take for granted. These include eating, speaking and even smiling. But tooth disorders are nothing to smile about. They include problems such as cavities (also known as tooth decay), infections, and injuries. The most familiar symptom of a tooth problem is a toothache. Others include worn-down or loose teeth. It's important that you see a dentist if you have any problems with your teeth. Fortunately, you can prevent many tooth disorders by taking care of your teeth and keeping them clean.
|
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What are the treatments for X-linked adrenal hypoplasia congenita ?
|
These resources address the diagnosis or management of X-linked adrenal hypoplasia congenita: - Gene Review: Gene Review: X-Linked Adrenal Hypoplasia Congenita - Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked - MedlinePlus Encyclopedia: Adrenal Glands - MedlinePlus Encyclopedia: Hypogonadotropic Hypogonadism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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1,
1,
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1,
1,
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1,
1,
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1,
1,
1,
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1,
1,
1,
1,
1,
1,
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1,
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1,
1,
1,
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1
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What are the symptoms of Achondrogenesis type 1A ?
|
What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Brachydactyly syndrome 50% Polyhydramnios 50% Recurrent fractures 50% Short toe 50% Umbilical hernia 50% Cystic hygroma 7.5% Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Broad clavicles - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-trunk short stature - Hypoplasia of the radius - Hypoplastic ischia - Hypoplastic scapulae - Protuberant abdomen - Short clavicles - Short ribs - Stillbirth - Unossified vertebral bodies - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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] |
What is (are) Papillary renal cell carcinoma ?
|
Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
|
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Who is at risk for Smoking and the Digestive System? ?
|
Smoking has been found to increase the risk of cancers of the3
- mouth - esophagus - stomach - pancreas
3
,
4
,
5
- liver - colon - rectum
More information about the link between smoking and cancers of the digestive system can be found on the National Cancer Institute website at www.cancer.gov/cancertopics/tobacco/smoking.
|
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Do you have information about Men's Health
|
Summary : Most men need to pay more attention to their health. Compared to women, men are more likely to - Smoke and drink - Make unhealthy or risky choices - Put off regular checkups and medical care There are also health conditions that only affect men, such as prostate cancer and low testosterone. Many of the major health risks that men face - like colon cancer or heart disease - can be prevented and treated with early diagnosis. Screening tests can find diseases early, when they are easier to treat. It's important to get the screening tests you need.
|
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Is hypomagnesemia with secondary hypocalcemia inherited ?
|
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
|
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How many people are affected by familial thoracic aortic aneurysm and dissection ?
|
Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. While aortic aneurysms are common worldwide, it is difficult to determine their exact prevalence because they usually cause no symptoms unless they rupture. Ruptured aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in the United States each year.
|
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How many people are affected by Rett syndrome ?
|
This condition affects an estimated 1 in 8,500 females.
|
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What is (are) Pigmented purpuric eruption ?
|
Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown.
|
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What is the outlook for Cerebral Hypoxia ?
|
Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. The longer someone is unconscious, the higher the chances of death or brain death and the lower the chances of a meaningful recovery. During recovery, psychological and neurological abnormalities such as amnesia, personality regression, hallucinations, memory loss, and muscle spasms and twitches may appear, persist, and then resolve.
|
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Is Troyer syndrome inherited ?
|
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
|
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How to diagnose Treatment Methods for Kidney Failure: Hemodialysis ?
|
About once a month, your dialysis care team will test your blood by using one of two formulasURR or Kt/Vto see whether your treatments are removing enough wastes. Both tests look at one specific waste product, called blood urea nitrogen (BUN), as an indicator for the overall level of waste products in your system. For more information about these measurements, see the NIDDK fact sheet Hemodialysis Dose and Adequacy.
|
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What are the genetic changes related to Prader-Willi syndrome ?
|
Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the paternal chromosome 15 is deleted in each cell. People with this chromosomal change are missing certain critical genes in this region because the genes on the paternal copy have been deleted, and the genes on the maternal copy are turned off (inactive). In another 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from his or her mother (maternal copies) instead of one copy from each parent. This phenomenon is called maternal uniparental disomy. Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect that abnormally turns off (inactivates) genes on the paternal chromosome 15. It appears likely that the characteristic features of Prader-Willi syndrome result from the loss of function of several genes on chromosome 15. Among these are genes that provide instructions for making molecules called small nucleolar RNAs (snoRNAs). These molecules have a variety of functions, including helping to regulate other types of RNA molecules. (RNA molecules play essential roles in producing proteins and in other cell activities.) Studies suggest that the loss of a particular group of snoRNA genes, known as the SNORD116 cluster, may play a major role in causing the signs and symptoms of Prader-Willi syndrome. However, it is unknown how a missing SNORD116 cluster could contribute to intellectual disability, behavioral problems, and the physical features of the disorder. In some people with Prader-Willi syndrome, the loss of a gene called OCA2 is associated with unusually fair skin and light-colored hair. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. However, loss of the OCA2 gene does not cause the other signs and symptoms of Prader-Willi syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes. Researchers are studying other genes on chromosome 15 that may also be related to the major signs and symptoms of this condition.
|
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What are the symptoms of Ornithine transcarbamylase deficiency ?
|
What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from OTC deficiency may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. In some affected individuals, signs and symptoms of OTC deficiency may be less severe, and may not appear until later in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine transcarbamylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Hepatic failure 90% Hyperammonemia 90% Hypoglycemia 90% Pyloric stenosis 90% Splenomegaly 90% Stroke 5% Cerebral edema - Coma - Episodic ammonia intoxication - Episodic ataxia - Failure to thrive - Hyperglutaminemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - Seizures - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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] |
What causes Hearing Loss ?
|
Hearing loss can result from taking certain medications. "Ototoxic" medications damage the inner ear, sometimes permanently. Check with your doctor if you notice a problem while taking a medication.
|
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] |
What is the outlook for Neurotoxicity ?
|
The prognosis depends upon the length and degree of exposure and the severity of neurological injury. In some instances, exposure to neurotoxicants can be fatal. In others, patients may survive but not fully recover. In other situations, many individuals recover completely after treatment.
|
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] |
What are the treatments for Warthin tumor ?
|
How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed.
|
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How to prevent Diabetes ?
|
The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that type 2 diabetes can be prevented or delayed in people at risk for the disease. Preventing type 2 diabetes can mean a healthier and longer life without serious complications from the disease such as heart disease, stroke, blindness, kidney failure, and amputations. Preventing Type 2 Diabetes Before people develop type 2 diabetes, they usually have prediabetes -- a condition in which blood glucose levels are higher than normal, but not yet high enough for a diagnosis of diabetes. The good news is that if you have prediabetes, there are ways to reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes Benefits of Weight Loss and Exercise The Diabetes Prevention Program (DPP) is a landmark study by the National Institute of Diabetes and Digestive and Kidney Diseases. DPP researchers found that adults at high risk for type 2 diabetes were able to cut their risk in half by losing a modest amount of weight and being active almost every day. This means losing 5 to 7 percent of body weight (that's 10 pounds if you weigh 200 pounds) and getting 150 minutes of physical activity a week. The drug metformin reduced the risk of type 2 diabetes by 34 percent but was more effective in younger and heavier adults. (Watch the video to learn more about preventing type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) The benefits of weight loss and regular exercise have long-lasting value. In a DPP follow-up trial known as the Diabetes Prevention Program Outcome Study (DPPOS), people at risk of type 2 diabetes who kept off the weight they had lost and who continued to exercise regularly delayed the onset of type 2 diabetes by about 4 years. The DPP study also showed that modest weight loss (achieved by following a low calorie, low-fat diet) and moderate physical activity were especially effective in preventing or delaying the development of diabetes in older people. In fact, people over the age of 60 were able to reduce their risk for developing type 2 diabetes by 71 percent. How to Lower Your Risk Making modest lifestyle changes can help prevent or delay type 2 diabetes in people who are at risk. Here are some tips. Reach and Maintain a Reasonable Body Weight Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. It can also cause high blood pressure. The Body Mass Index chart (seen here) can be used to find out whether someone is normal weight, overweight, or obese. Body mass index is a measurement of body weight relative to height for adults age 20 or older. To use the chart - find the person's height in the left-hand column - move across the row to find the number closest to the person's weight - find the number at the top of that column - The number at the top of the column is the persons BMI. find the person's height in the left-hand column move across the row to find the number closest to the person's weight find the number at the top of that column The number at the top of the column is the persons BMI. The words above the BMI number indicate whether the person is normal weight, overweight, or obese. People who are overweight or obese should consider talking with a health care provider about ways to lose weight and reduce the risk of diabetes. The BMI has certain limitations. The BMI may overestimate body fat in athletes and others who have a muscular build and underestimate body fat in older adults and others who have lost muscle. Waist Measurement. In addition to weight, the location of excess fat on the body can be important. A waist measurement of 40 inches or more for men and 35 inches or more for women is linked to insulin resistance and increases a persons risk for type 2 diabetes. This is true even if a persons body mass index (BMI) falls within the normal range. To measure the waist, a person should - place a tape measure around the bare abdomen just above the hip bone - make sure the tape is snug but isnt digging into the skin and is parallel to the floor - relax, exhale, and measure. place a tape measure around the bare abdomen just above the hip bone make sure the tape is snug but isnt digging into the skin and is parallel to the floor relax, exhale, and measure. Make Healthy Food Choices What you eat has a big impact on your weight and overall health. By developing healthy eating habits, you can help manage your body weight, blood pressure, and cholesterol. Reducing portion size, increasing the amount of fiber you consume (by eating more fruits and vegetables) and limiting fatty and salty foods are key to a healthy diet. Here are more tips for eating well with diabetes. - Make a diabetes meal plan with help from your health care team. - Choose foods that are lower in calories, saturated fat, trans fat, sugar, and salt. - Eat foods with more fiber, such as whole grain cereals, breads, crackers, rice, or pasta. - Choose foods such as fruits, vegetables, whole grains, bread and cereals, and low-fat or skim milk and cheese. - Drink water instead of juice and regular soda. - When eating a meal, fill half of your plate with fruits and vegetables, one quarter with a lean protein, such as beans, or chicken or turkey without the skin, and one quarter with a whole grain, such as brown rice or whole wheat pasta. Make a diabetes meal plan with help from your health care team. Choose foods that are lower in calories, saturated fat, trans fat, sugar, and salt. Eat foods with more fiber, such as whole grain cereals, breads, crackers, rice, or pasta. Choose foods such as fruits, vegetables, whole grains, bread and cereals, and low-fat or skim milk and cheese. Drink water instead of juice and regular soda. When eating a meal, fill half of your plate with fruits and vegetables, one quarter with a lean protein, such as beans, or chicken or turkey without the skin, and one quarter with a whole grain, such as brown rice or whole wheat pasta. For more about healthy eating and older adults see "Eating Well as You Get Older." Be Physically Active Get at least 30 minutes of exercise at least five days a week. Regular exercise reduces diabetes risk in several ways. It - helps you lose weight - controls your cholesterol and blood pressure - improves your body's use of insulin. helps you lose weight controls your cholesterol and blood pressure improves your body's use of insulin. Many people make walking part of their daily routine because its easy, fun and convenient. But you can choose any activity that gets you moving. Its fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program. Many people make walking part of their daily routine because its easy, fun and convenient. But you can choose any activity that gets you moving. Its fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program. For more information on exercise and older adults, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.
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15
] |
What are the symptoms of Ovarian Low Malignant Potential Tumors ?
|
Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen.Ovarian low malignant potential tumor may not cause early signs or symptoms. If you do have signs or symptoms, they may include the following: - Pain or swelling in the abdomen. - Pain in the pelvis. - Gastrointestinal problems, such as gas, bloating, or constipation. These signs and symptoms may be caused by other conditions. If they get worse or do not go away on their own, check with your doctor.
|
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] |
What is (are) Pearson marrow-pancreas syndrome ?
|
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected. Most affected individuals have a shortage of red blood cells (anemia), which can cause pale skin (pallor), weakness, and fatigue. Some of these individuals also have low numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized under the microscope, bone marrow cells from affected individuals may appear abnormal. Often, early blood cells (hematopoietic precursors) have multiple fluid-filled pockets called vacuoles. In addition, red blood cells in the bone marrow can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment with certain dyes. These abnormal cells are called ring sideroblasts. In people with Pearson marrow-pancreas syndrome, the pancreas does not work as well as usual. The pancreas produces and releases enzymes that aid in the digestion of fats and proteins. Reduced function of this organ can lead to high levels of fats in the liver (liver steatosis). The pancreas also releases insulin, which helps maintain correct blood sugar levels. A small number of individuals with Pearson marrow-pancreas syndrome develop diabetes, a condition characterized by abnormally high blood sugar levels that can be caused by a shortage of insulin. In addition, affected individuals may have scarring (fibrosis) in the pancreas. People with Pearson marrow-pancreas syndrome have a reduced ability to absorb nutrients from the diet (malabsorption), and most affected infants have an inability to grow and gain weight at the expected rate (failure to thrive). Another common occurrence in people with this condition is buildup in the body of a chemical called lactic acid (lactic acidosis), which can be life-threatening. In addition, liver and kidney problems can develop in people with this condition. About half of children with this severe disorder die in infancy or early childhood due to severe lactic acidosis or liver failure. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes and other problems.
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What is (are) Larsen syndrome ?
|
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate). People with Larsen syndrome may also have an unusually large range of joint movement (hypermobility) and short stature. They can also have abnormal curvature of the spine (kyphosis or scoliosis) that may compress the spinal cord and lead to weakness of the limbs. Characteristic facial features include a prominent forehead (frontal bossing), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Some people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate) or hearing loss caused by malformations in the tiny bones in the ears (ossicles). Some affected individuals experience respiratory problems as a result of weakness of the airways that can lead to partial closing, short pauses in breathing (apnea), and frequent respiratory infections. People with Larsen syndrome can survive into adulthood and intelligence is unaffected.
|
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What is (are) Alagille Syndrome ?
|
The digestive system is made up of the gastrointestinal (GI) tractalso called the digestive tractand the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the colon and rectumand anus. Food enters the mouth and passes to the anus through the hollow organs of the digestive system. The liver, pancreas, and gallbladder are the solid organs of the digestive system. The digestive system helps the body digest food.
|
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How many people are affected by hereditary sensory and autonomic neuropathy type II ?
|
HSAN2 is a rare disease; however, the prevalence is unknown.
|
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What is (are) Fainting ?
|
Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may "white out" or "black out." Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include - Heat or dehydration - Emotional distress - Standing up too quickly - Certain medicines - Drop in blood sugar - Heart problems When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened.
|
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What are the symptoms of Pyruvate decarboxylase deficiency ?
|
What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 35% Abnormality of eye movement - Agenesis of corpus callosum - Anteverted nares - Apneic episodes precipitated by illness, fatigue, stress - Basal ganglia cysts - Cerebral atrophy - Choreoathetosis - Chronic lactic acidosis - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Dystonia - Episodic ataxia - Flared nostrils - Frontal bossing - Hyperalaninemia - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lethargy - Long philtrum - Microcephaly - Muscular hypotonia - Phenotypic variability - Ptosis - Seizures - Severe lactic acidosis - Small for gestational age - Ventriculomegaly - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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How many people are affected by systemic lupus erythematosus ?
|
For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women; however, 20 percent of SLE cases occur in people over age 50. Because many of the signs and symptoms of SLE resemble those of other disorders, diagnosis may be delayed for years, and the condition may never be diagnosed in some affected individuals. In industrialized Western countries, people of African and Asian descent are two to four times more likely to develop SLE than are people of European descent. However, while the prevalence of SLE in Africa and Asia is unknown, it is believed to be much lower than in Western nations. Researchers suggest that factors such as ethnic mixing, tobacco use in industrialized countries, and the different types of infections people acquire in different regions may help account for the discrepancy. For example malaria, which occurs often in tropical regions, is thought to be protective against SLE, while the Epstein-Barr virus, more common in the West, increases SLE risk.
|
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Is early-onset glaucoma inherited ?
|
Early-onset glaucoma can have different inheritance patterns. Primary congenital glaucoma is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Juvenile open-angle glaucoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some families, primary congenital glaucoma may also be inherited in an autosomal dominant pattern.
|
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How to diagnose Glycogen storage disease type 13 ?
|
How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells. Genetic testing can also be done to look for changes (mutations) in the ENO3 gene.
|
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] |
What are the treatments for Absence of the Septum Pellucidum ?
|
Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia or other developmental anomalies.
|
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What are the treatments for phosphoglycerate dehydrogenase deficiency ?
|
These resources address the diagnosis or management of phosphoglycerate dehydrogenase deficiency: - Genetic Testing Registry: Phosphoglycerate dehydrogenase deficiency - Seattle Children's Hospital: Epilepsy Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What is (are) Insomnia ?
|
Insomnia is a common sleep disorder. If you have it, you may have trouble falling asleep, staying asleep, or both. As a result, you may get too little sleep or have poor-quality sleep. You may not feel refreshed when you wake up. Symptoms of insomnia include: - Lying awake for a long time before you fall asleep - Sleeping for only short periods - Being awake for much of the night - Feeling as if you haven't slept at all - Waking up too early Your doctor will diagnose insomnia based on your medical and sleep histories and a physical exam. He or she also may recommend a sleep study. A sleep study measures how well you sleep and how your body responds to sleep problems. Treatments include lifestyle changes, counseling, and medicines. NIH: National Heart, Lung, and Blood Institute
|
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How many people are affected by spondyloepimetaphyseal dysplasia, Strudwick type ?
|
This condition is rare; only a few affected individuals have been reported worldwide.
|
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What is (are) Porphyria ?
|
Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
|
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Is Leukoencephalopathy with vanishing white matter inherited ?
|
How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
|
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What causes Hyperthyroidism ?
|
Hyperthyroidism has several causes, including
- Graves disease - thyroid nodules - thyroiditis, or inflammation of the thyroid - consuming too much iodine - overmedicating with synthetic thyroid hormone, which is used to treat underactive thyroid
Rarely, hyperthyroidism is caused by a pituitary adenoma, which is a noncancerous tumor of the pituitary gland. In this case, hyperthyroidism is due to too much TSH.
Graves Disease
Graves disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the United States. Graves disease is an autoimmune disorder. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells and organs.
With Graves disease, the immune system makes an antibody called thyroid stimulating immunoglobulin (TSI) that attaches to thyroid cells. TSI mimics the action of TSH and stimulates the thyroid to make too much thyroid hormone.
More information is provided in the NIDDK health topic, Graves' disease.
Thyroid Nodules
Thyroid nodules, also called adenomas, are lumps in the thyroid. Thyroid nodules are common and usually noncancerous. About 3 to 7 percent of the U.S. population has them.2 However, nodules may become overactive and produce too much hormone.
A single overactive nodule is called a toxic adenoma. Multiple overactive nodules are called toxic multinodular goiter. Often found in older adults, toxic multinodular goiter can produce a large amount of excess thyroid hormone.
Thyroiditis
Thyroiditis is an inflammation of the thyroid that causes stored thyroid hormone to leak out of the thyroid gland. At first, the leakage raises hormone levels in the blood, leading to hyperthyroidism that lasts for 1 or 2 months. Most people then develop hypothyroidismwhen thyroid hormone levels are too lowbefore the thyroid is completely healed.
Several types of thyroiditis can cause hyperthyroidism followed by hypothyroidism:
- Subacute thyroiditis. This condition involves painful inflammation and enlargement of the thyroid. Experts are not sure what causes subacute thyroiditis, but it may be related to a viral or bacterial infection. The condition usually goes away on its own in a few months. - Postpartum thyroiditis. This type of thyroiditis develops after a woman gives birth. For more information, see the section titled What happens with pregnancy and thyroid conditions? - Silent thyroiditis. This type of thyroiditis is called silent because it is painless, as is postpartum thyroiditis, even though the thyroid may be enlarged. Like postpartum thyroiditis, silent thyroiditis is probably an autoimmune condition and sometimes develops into permanent hypothyroidism.
Consuming Too Much Iodine
The thyroid uses iodine to make thyroid hormone, so the amount of iodine consumed influences the amount of thyroid hormone the thyroid makes. In some people, consuming large amounts of iodine may cause the thyroid to make excess thyroid hormone.
Sometimes significant amounts of iodine are contained in medicationssuch as amiodarone, which is used to treat heart problemsor in supplements containing seaweed. Some cough syrups also contain large amounts of iodine. See Eating, Diet, and Nutrition for more information on iodine.
Overmedicating with Synthetic Thyroid Hormone
Some people who take synthetic thyroid hormone for hypothyroidism may take too much. People who take synthetic thyroid hormone should see their health care provider at least once a year to have their thyroid hormone levels checked and follow the health care providers instructions about the dosage.
Some other medications may also interact with synthetic thyroid hormone to raise hormone levels in the blood. People who take synthetic thyroid hormone should ask their health care provider about interactions when starting new medications.
|
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] |
What is (are) Diagnosis of Diabetes and Prediabetes ?
|
Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia.
Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose, a form of sugar that enters the bloodstream. With the help of the hormone insulin, cells throughout the body absorb glucose and use it for energy. Insulin is made in the pancreas, an organ located behind the stomach. As the blood glucose level rises after a meal, the pancreas is triggered to release insulin. Within the pancreas, clusters of cells called islets contain beta cells, which make the insulin and release it into the blood.
Diabetes develops when the body doesnt make enough insulin or is not able to use insulin effectively, or both. As a result, glucose builds up in the blood instead of being absorbed by cells in the body. The bodys cells are then starved of energy despite high blood glucose levels.
Over time, high blood glucose damages nerves and blood vessels, leading to complications such as heart disease, stroke, kidney disease, blindness, dental disease, and amputations. Other complications of diabetes may include increased susceptibility to other diseases, loss of mobility with aging, depression, and pregnancy problems.
Main Types of Diabetes
The three main types of diabetes are type 1, type 2, and gestational diabetes:
- Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, the beta cells of the pancreas no longer make insulin because the bodys immune system has attacked and destroyed them. - Type 2 diabetes, formerly called adult-onset diabetes, is the most common type of diabetes. About 90 to 95 percent of people with diabetes have type 2.1 People can develop type 2 diabetes at any age, even during childhood, but this type of diabetes is most often associated with older age. Type 2 diabetes is also associated with excess weight, physical inactivity, family history of diabetes, previous history of gestational diabetes, and certain ethnicities. Type 2 diabetes usually begins with insulin resistance, a condition linked to excess weight in which muscle, liver, and fat cells do not use insulin properly. As a result, the body needs more insulin to help glucose enter cells to be used for energy. At first, the pancreas keeps up with the added demand by producing more insulin. But in time, the pancreas loses its ability to produce enough insulin in response to meals, and blood glucose levels rise. - Gestational diabetes is a type of diabetes that develops only during pregnancy. The hormones produced during pregnancy increase the amount of insulin needed to control blood glucose levels. If the body cant meet this increased need for insulin, women can develop gestational diabetes during the late stages of pregnancy. Gestational diabetes usually goes away after the baby is born. Shortly after pregnancy, 5 to 10 percent of women with gestational diabetes continue to have high blood glucose levels and are diagnosed as having diabetes, usually type 2.1 Research has shown that lifestyle changes and the diabetes medication, metformin, can reduce or delay the risk of type 2 diabetes in these women. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up. More information about gestational diabetes is provided in the NIDDK health topic, What I need to know about Gestational Diabetes,or by calling 18008608747.
Other Types of Diabetes
Many other types of diabetes exist, and a person can exhibit characteristics of more than one type. For example, in latent autoimmune diabetes in adults, people show signs of both type 1 and type 2 diabetes. Other types of diabetes include those caused by genetic defects, diseases of the pancreas, excess amounts of certain hormones resulting from some medical conditions, medications that reduce insulin action, chemicals that destroy beta cells, infections, rare autoimmune disorders, and genetic syndromes associated with diabetes.
More information about other types of diabetes is provided in the NIDDK health topic, Causes of Diabetes, or by calling 18008608747.
|
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Do you have information about Heart Surgery
|
Summary : Heart surgery can correct problems with the heart if other treatments haven't worked or can't be used. The most common type of heart surgery for adults is coronary artery bypass grafting (CABG). During CABG, a healthy artery or vein from the body is connected, or grafted, to a blocked coronary (heart) artery. Doctors also use heart surgery to - Repair or replace heart valves, which control blood flow through the heart - Repair abnormal or damaged structures in the heart - Implant medical devices that help control the heartbeat or support heart function and blood flow - Replace a damaged heart with a healthy heart from a donor - Treat heart failure and coronary heart disease - Control abnormal heart rhythms Heart surgery has risks, even though its results often are excellent. Risks include bleeding, infection, irregular heartbeats, and stroke. The risk is higher if you are older or a woman. The risk is also higher if you have other diseases or conditions, such as diabetes, kidney disease, lung disease, or peripheral arterial disease. NIH: National Heart, Lung, and Blood Institute
|
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Is Turner syndrome inherited ?
|
Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome. Mosaic Turner syndrome is also not inherited. In an affected individual, it occurs as a random event during cell division in early fetal development. As a result, some of an affected person's cells have the usual two sex chromosomes, and other cells have only one copy of the X chromosome. Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism. Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next.
|
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What are the treatments for Heart Attack ?
|
After a heart attack, many people worry about having another heart attack. They often feel depressed and may have trouble adjusting to a new lifestyle. You should discuss your feelings with your doctor. Your doctor can give you medication for anxiety or depression and may recommend professional counseling. Spend time with family, friends, and even pets. Affection can make you feel better and less lonely. Most people stop feeling depressed after they have fully recovered.
|
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What is (are) congenital contractural arachnodactyly ?
|
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened. A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.
|
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What is (are) Encephalitis lethargica ?
|
Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes including psychosis. A world-wide epidemic of encephalitis lethargica occurred from 1917 to 1928. The cause of this condition is unknown, and treatment depends on a person's symptoms. Levodopa and other antiparkinson drugs often produce dramatic responses.
|
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What is the outlook for Ovarian Low Malignant Potential Tumors ?
|
Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the disease (whether it affects part of the ovary, involves the whole ovary, or has spread to other places in the body). - What type of cells make up the tumor. - The size of the tumor. - The patients general health. Patients with ovarian low malignant potential tumors have a good prognosis, especially when the tumor is found early.
|
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] |
What are the treatments for Atrial Fibrillation ?
|
Treatment for atrial fibrillation (AF) depends on how often you have symptoms, how severe they are, and whether you already have heart disease. General treatment options include medicines, medical procedures, and lifestyle changes.
Goals of Treatment
The goals of treating AF include:
Preventing blood clots from forming, thus lowering the risk of stroke.
Controlling how many times a minute the ventricles contract. This is called rate control. Rate control is important because it allows the ventricles enough time to completely fill with blood. With this approach, the abnormal heart rhythm continues, but you feel better and have fewer symptoms.
Restoring a normal heart rhythm. This is called rhythm control. Rhythm control allows the atria and ventricles to work together to efficiently pump blood to the body.
Treating any underlying disorder that's causing or raising the risk of AFfor example, hyperthyroidism (too much thyroid hormone).
Who Needs Treatment for Atrial Fibrillation?
People who have AF but don't have symptoms or related heart problems may not need treatment. AF may even go back to a normal heart rhythm on its own. (This also can occur in people who have AF with symptoms.)
In some people who have AF for the first time, doctors may choose to use an electrical procedure or medicine to restore a normal heart rhythm.
Repeat episodes of AF tend to cause changes to the heart's electrical system, leading to persistent or permanent AF. Most people who have persistent or permanent AF need treatment to control their heart rate and prevent complications.
Specific Types of Treatment
Blood Clot Prevention
People who have AF are at increased risk for stroke. This is because blood can pool in the heart's upper chambers (the atria), causing a blood clot to form. If the clot breaks off and travels to the brain, it can cause a stroke.
Preventing blood clots from forming is probably the most important part of treating AF. The benefits of this type of treatment have been proven in multiple studies.
Doctors prescribe blood-thinning medicines to prevent blood clots. These medicines include warfarin (Coumadin), dabigatran, heparin, and aspirin.
People taking blood-thinning medicines need regular blood tests to check how well the medicines are working.
Rate Control
Doctors can prescribe medicines to slow down the rate at which the ventricles are beating. These medicines help bring the heart rate to a normal level.
Rate control is the recommended treatment for most patients who have AF, even though an abnormal heart rhythm continues and the heart doesn't work as well as it should. Most people feel better and can function well if their heart rates are well-controlled.
Medicines used to control the heart rate include beta blockers (for example, metoprolol and atenolol), calcium channel blockers (diltiazem and verapamil), and digitalis (digoxin). Several other medicines also are available.
Rhythm Control
Restoring and maintaining a normal heart rhythm is a treatment approach recommended for people who aren't doing well with rate control treatment. This treatment also may be used for people who have only recently started having AF. The long-term benefits of rhythm control have not been proven conclusively yet.
Doctors use medicines or procedures to control the heart's rhythm. Patients often begin rhythm control treatment in a hospital so that their hearts can be closely watched.
The longer you have AF, the less likely it is that doctors can restore a normal heart rhythm. This is especially true for people who have had AF for 6 months or more.
Restoring a normal rhythm also becomes less likely if the atria are enlarged or if any underlying heart disease worsens. In these cases, the chance that AF will recur is high, even if you're taking medicine to help convert AF to a normal rhythm.
Medicines. Medicines used to control the heart rhythm include amiodarone, sotalol, flecainide, propafenone, dofetilide, and ibutilide. Sometimes older medicinessuch as quinidine, procainamide, and disopyramideare used.
Your doctor will carefully tailor the dose and type of medicines he or she prescribes to treat your AF. This is because medicines used to treat AF can cause a different kind of arrhythmia.
These medicines also can harm people who have underlying diseases of the heart or other organs. This is especially true for patients who have an unusual heart rhythm problem called Wolff-Parkinson-White syndrome.
Your doctor may start you on a small dose of medicine and then gradually increase the dose until your symptoms are controlled. Medicines used for rhythm control can be given regularly by injection at a doctor's office, clinic, or hospital. Or, you may routinely take pills to try to control AF or prevent repeat episodes.
If your doctor knows how you'll react to a medicine, a specific dose may be prescribed for you to take on an as-needed basis if you have an episode of AF.
Procedures. Doctors use several procedures to restore a normal heart rhythm. For example, they may use electrical cardioversion to treat a fast or irregular heartbeat. For this procedure, low-energy shocks are given to your heart to trigger a normal rhythm. You're temporarily put to sleep before you receive the shocks.
Electrical cardioversion isn't the same as the emergency heart shocking procedure often seen on TV programs. It's planned in advance and done under carefully controlled conditions.
Before doing electrical cardioversion, your doctor may recommend transesophageal echocardiography (TEE). This test can rule out the presence of blood clots in the atria. If clots are present, you may need to take blood-thinning medicines before the procedure. These medicines can help get rid of the clots.
Catheter ablation (ab-LA-shun) may be used to restore a normal heart rhythm if medicines or electrical cardioversion don't work. For this procedure, a wire is inserted through a vein in the leg or arm and threaded to the heart.
Radio wave energy is sent through the wire to destroy abnormal tissue that may be disrupting the normal flow of electrical signals. An electrophysiologist usually does this procedure in a hospital. Your doctor may recommend a TEE before catheter ablation to check for blood clots in the atria.
Sometimes doctors use catheter ablation to destroy the atrioventricular (AV) node. The AV node is where the heart's electrical signals pass from the atria to the ventricles (the heart's lower chambers). This procedure requires your doctor to surgically implant a device called a pacemaker, which helps maintain a normal heart rhythm.
Research on the benefits of catheter ablation as a treatment for AF is still ongoing. (For more information, go to the "Clinical Trials" section of this article.)
Another procedure to restore a normal heart rhythm is called maze surgery. For this procedure, the surgeon makes small cuts or burns in the atria. These cuts or burns prevent the spread of disorganized electrical signals.
This procedure requires open-heart surgery, so it's usually done when a person requires heart surgery for other reasons, such as for heart valve disease (which can increase the risk of AF).
Approaches To Treating Underlying Causes and Reducing Risk Factors
Your doctor may recommend treatments for an underlying cause of AF or to reduce AF risk factors. For example, he or she may prescribe medicines to treat an overactive thyroid, lower high blood pressure, or manage high blood cholesterol.
Your doctor also may recommend lifestyle changes, such as following a healthy diet, cutting back on salt intake (to help lower blood pressure), quitting smoking, and reducing stress.
Limiting or avoiding alcohol, caffeine, or other stimulants that may increase your heart rate also can help reduce your risk for AF.
|
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What is (are) Familial hemiplegic migraine type 3 ?
|
Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
|
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What is (are) familial exudative vitreoretinopathy ?
|
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil. Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures.
|
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What are the treatments for Branchiootorenal syndrome ?
|
How might branchiootorenal syndrome be treated? Hereditary hearing loss conditions, in general, tend to be managed by a team that includes an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, sometimes an educator of the Deaf, a neurologist, and in case of branchiootorenal syndrome, a nephrologist (kidney doctor). Treatment of hearing loss may include determining which aids would be most helpful, for example hearing aids or vibrotactile devices; cochlear implantation may be considered in children over age 12 months with severe-to-profound hearing loss. Early hearing intervention through amplification, surgery, or cochlear implantation may be recommended for children who are at risk to lose their hearing before they learn to speak. People with hereditary hearing loss often require regular follow-up with a hearing specialist such as an audiologist to monitor stability or progression of the hearing loss. Treatment of branchial fistulae or cysts may require surgery. For people with branchiootorenal syndrome and severe kidney malformations or complications, dialysis or kidney transplant may be required.
|
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How many people are affected by D-bifunctional protein deficiency ?
|
D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns.
|
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How many people are affected by medium-chain acyl-CoA dehydrogenase deficiency ?
|
In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups.
|
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What is (are) Occipital Neuralgia ?
|
Occipital neuralgia is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards. Some individuals will also experience pain in the scalp, forehead, and behind the eyes. Their scalp may also be tender to the touch, and their eyes especially sensitive to light. The location of pain is related to the areas supplied by the greater and lesser occipital nerves, which run from the area where the spinal column meets the neck, up to the scalp at the back of the head. The pain is caused by irritation or injury to the nerves, which can be the result of trauma to the back of the head, pinching of the nerves by overly tight neck muscles, compression of the nerve as it leaves the spine due to osteoarthritis, or tumors or other types of lesions in the neck. Localized inflammation or infection, gout, diabetes, blood vessel inflammation (vasculitis), and frequent lengthy periods of keeping the head in a downward and forward position are also associated with occipital neuralgia. In many cases, however, no cause can be found. A positive response (relief from pain) after an anesthetic nerve block will confirm the diagnosis.
|
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Do you have information about Nursing Homes
|
Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day. Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupational therapy. There might be a nurses' station on each floor. Other nursing homes try to be more like home. They try to have a neighborhood feel. Often, they don't have a fixed day-to-day schedule, and kitchens might be open to residents. Staff members are encouraged to develop relationships with residents. Some nursing homes have special care units for people with serious memory problems such as Alzheimer's disease. Some will let couples live together. Nursing homes are not only for the elderly, but for anyone who requires 24-hour care. NIH: National Institute on Aging
|
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What is (are) Primary gastrointestinal melanoma ?
|
Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body, melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum.
|
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What are the treatments for Restless Legs Syndrome ?
|
Restless legs syndrome (RLS) has no cure. If a condition or medicine triggers RLS, it may go away or get better if the trigger is relieved or stopped.
RLS can be treated. The goals of treatment are to:
Prevent or relieve symptoms
Increase the amount of sleep you're getting and improve the quality of your sleep
Treat or correct any underlying condition that may trigger or worsen RLS
Mild cases of RLS often are treated with lifestyle changes and sometimes with periodic use of medicines. More severe RLS usually is treated with daily medicines.
Lifestyle Changes
Lifestyle changes can prevent or relieve the symptoms of RLS. For mild RLS, lifestyle changes may be the only treatment needed.
Preventing Symptoms
Many common substances, such as alcohol and tobacco, can trigger RLS symptoms. Avoiding these substances can limit or prevent symptoms.
Some prescription and over-the-counter medicines can cause or worsen RLS symptoms. Tell your doctor about all of the medicines you're taking. He or she can tell you whether you should stop or change certain medicines.
Adopting good sleep habits can help you fall asleep and stay asleepa problem for many people who have RLS. Good sleep habits include:
Keeping the area where you sleep cool, quiet, comfortable, and as dark as possible.
Making your bedroom sleep-friendly. Remove things that can interfere with sleep, such as a TV, computer, or phone.
Going to bed and waking up at the same time every day. Some people who have RLS find it helpful to go to bed later in the evening and get up later in the morning.
Avoiding staying in bed awake for long periods in the evening or during the night.
Doing a challenging activity before bedtime, such as solving a crossword puzzle, may ease your RLS symptoms. This distraction may make it easier for you to fall asleep. Focusing on your breathing and using other relaxation techniques also may help you fall asleep.
Regular, moderate physical activity also can help limit or prevent RLS symptoms. Often, people who have RLS find that if they increase their activity during the day, they have fewer symptoms.
Relieving Symptoms
Certain activities can relieve RLS symptoms. These include:
Walking or stretching
Taking a hot or cold bath
Massaging the affected limb(s)
Using heat or ice packs on the affected limb(s)
Doing mentally challenging tasks
Choose an aisle seat at the movies or on airplanes and trains so you can move around, if necessary.
Medicines
You may need medicines to treat RLS if lifestyle changes can't control symptoms. Many medicines can relieve or prevent RLS symptoms.
No single medicine works for all people who have RLS. It may take several changes in medicines and dosages to find the best approach. Sometimes, a medicine will work for a while and then stop working.
Some of the medicines used to treat RLS also are used to treat Parkinson's disease. These medicines make dopamine or mimic it in the parts of the brain that control movement. (Dopamine is a chemical that helps you move properly.)
If medicines for Parkinson's disease don't prevent or relieve your symptoms, your doctor may prescribe other medicines. You may have to take more than one medicine to treat your RLS.
Always talk with your doctor before taking any medicines. He or she can tell you the side effects of each RLS medicine. Side effects may include nausea (feeling sick to your stomach), headache, and daytime sleepiness.
In some cases, RLS medicines may worsen problems with excessive gambling, shopping, or sexual activity. Sometimes, continued use of RLS medicines may make your RLS symptoms worse.
Contact your doctor if you have any of these problems. He or she can adjust your medicines to prevent these side effects.
|
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Do you have information about HIV/AIDS Medicines
|
Summary : In the early 1980s, when the HIV/AIDS epidemic began, patients rarely lived longer than a few years. But today, there are many effective medicines to fight the infection, and people with HIV have longer, healthier lives. There are five major types of medicines: - Reverse transcriptase (RT) inhibitors - interfere with a critical step during the HIV life cycle and keep the virus from making copies of itself - Protease inhibitors - interfere with a protein that HIV uses to make infectious viral particles - Fusion inhibitors - block the virus from entering the body's cells - Integrase inhibitors - block an enzyme HIV needs to make copies of itself - Multidrug combinations - combine two or more different types of drugs into one These medicines help people with HIV, but they are not perfect. They do not cure HIV/AIDS. People with HIV infection still have the virus in their bodies. They can still spread HIV to others through unprotected sex and needle sharing, even when they are taking their medicines. NIH: National Institute of Allergy and Infectious Diseases
|
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What causes Blue rubber bleb nevus syndrome ?
|
What causes blue rubber bleb nevus syndrome? Currently the cause of blue rubber bleb syndrome is not known.
|
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What is (are) craniofacial-deafness-hand syndrome ?
|
Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals often have underdeveloped or absent nasal bones resulting in a small nose, thin nostrils, and a flattened mid-face with a flat nasal bridge. Individuals with this condition typically also have widely spaced eyes (ocular hypertelorism), narrowed openings of the eyes (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), and a small mouth with pursed lips. People with this condition also have profound hearing loss that is caused by abnormalities in the inner ear (sensorineural deafness). Hearing loss in these individuals is present from birth. In affected individuals, a common abnormality of the muscles in the hand is a malformation in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). People with craniofacial-deafness-hand syndrome may also have permanently bent third, fourth, and fifth fingers (camptodactyly), which can limit finger movement and lead to joint deformities called contractures. Contractures in the wrist can further impair hand movements.
|
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What are the treatments for Progressive bulbar palsy ?
|
How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at John Hopkins offers further general information on treatment: http://www.alscenter.org/living_with_als/treatment.html The Mayo Clinic provides information on treatment of ALS in general, which may be helpful: http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/treatment/con-20024397 If you are interested in learning about clinical trials, we recommend that you call the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222. Organizations, such as the ALS Association and Muscular Dystrophy Association are great sources for information on clinical trial opportunities and research. You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
|
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] |
What are the symptoms of Akesson syndrome ?
|
What are the signs and symptoms of Akesson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the endocrine system - Cutis gyrata of scalp - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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] |
What is the outlook for Narcolepsy ?
|
None of the currently available medications enables people with narcolepsy to consistently maintain a fully normal state of alertness. But EDS and cataplexy, the most disabling symptoms of the disorder, can be controlled in most patients with drug treatment. Often the treatment regimen is modified as symptoms change. Whatever the age of onset, patients find that the symptoms tend to get worse over the two to three decades after the first symptoms appear. Many older patients find that some daytime symptoms decrease in severity after age 60.
|
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What are the treatments for Disseminated Intravascular Coagulation ?
|
Treatment for disseminated intravascular coagulation (DIC) depends on its severity and cause. The main goals of treating DIC are to control bleeding and clotting problems and treat the underlying cause.
Acute Disseminated Intravascular Coagulation
People who have acute DIC may have severe bleeding that requires emergency treatment in a hospital. Treatment may include blood transfusions, medicines, and oxygen therapy. (Oxygen is given through nasal prongs, a mask, or a breathing tube.)
A blood transfusion is a safe, common procedure. You receive blood through an intravenous (IV) line in one of your blood vessels. Blood transfusions are done to replace blood loss due to an injury, surgery, or illness.
Blood is made up of various parts, including red blood cells, white blood cells, platelets, and plasma. Some blood transfusions involve whole blood (blood with all of its parts). More often though, only some parts of blood are transfused.
If you have DIC, you may be given platelets and clotting factors, red blood cells, and plasma (the liquid part of blood).
Chronic Disseminated Intravascular Coagulation
People who have chronic DIC are more likely to have blood clotting problems than bleeding. If you have chronic DIC, your doctor may treat you with medicines called anticoagulants, or blood thinners.
Blood thinners help prevent blood clots from forming. They also keep existing blood clots from getting larger.
|
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Is infantile-onset spinocerebellar ataxia inherited ?
|
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
|
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What are the treatments for microcephalic osteodysplastic primordial dwarfism type II ?
|
These resources address the diagnosis or management of MOPDII: - Genetic Testing Registry: Microcephalic osteodysplastic primordial dwarfism type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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Is Congenital radio-ulnar synostosis inherited ?
|
How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an affected individual, or it may be inherited from an affected parent. Each child of an individual with an autosomal dominant condition has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Congenital radio-ulnar synostosis may also occur with a variety of other abnormalities and may be associated with a chromosome abnormality or genetic syndrome. In these cases, the inheritance pattern may depend upon that of the underlying genetic abnormality. Some genetic abnormalities that have been reported in association with this condition include Apert syndrome, Carpenter syndrome, arthrogryposis, Treacher Collins syndrome, Williams syndrome, Klinefelter syndrome, and Holt-Oram syndrome. Congenital radio-ulnar synostosis may also occur sporadically as an isolated abnormality, in which case the cause may be unknown.
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What are the genetic changes related to Aicardi-Goutieres syndrome ?
|
Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. The TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes provide instructions for making nucleases, which are enzymes that help break up molecules of DNA and its chemical cousin RNA. Mutations in any of these genes are believed to result in an absent or dysfunctional nuclease enzyme. Researchers suggest that absent or impaired enzyme function may result in the accumulation of unneeded DNA and RNA in cells. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), copying (replication) of cells' genetic material in preparation for cell division, DNA repair, cell death, and other processes. The unneeded DNA and RNA may be mistaken by cells for that of viral invaders, triggering immune system reactions that result in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutieres syndrome. The SAMHD1 gene provides instructions for making a protein whose function is not well understood; however, it is believed to be involved in the immune system and the inflammatory process. Mutations in this gene likely result in a protein that does not function properly, resulting in immune system abnormalities, inflammatory damage to the brain and skin, and other characteristics of Aicardi-Goutieres syndrome.
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What is (are) Urea cycle disorders ?
|
A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function.
|
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What are the symptoms of SHORT syndrome ?
|
What are the signs and symptoms of SHORT syndrome? SHORT syndrome is a disorder that affects multiple parts of the body. It is mainly characterized by several features that are represented by the acronym SHORT: (S) short stature; (H) hyperextensible joints (joints that stretch more than usual) and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. A loss of fat under the skin (lipodystrophy), usually most prominent in the face and upper body, is also a main feature of the syndrome. Affected individuals often have additional, distinctive, facial features including a small chin with a dimple; triangular-shaped face; prominent forehead; abnormal positioning of the ears; large ears; underdeveloped (hypoplastic) or thin nostrils; and thin, wrinkled skin that gives the impression of premature aging. Intelligence is often normal, but some affected individuals have speech delay and/or other developmental delays in childhood. Hearing loss is common. Affected infants may have difficulty gaining weight and may be prone to illnesses. Individuals may also develop diabetes in the second decade of life. The Human Phenotype Ontology provides the following list of signs and symptoms for SHORT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Deeply set eye 90% Hernia of the abdominal wall 90% Joint hypermobility 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of adipose tissue 50% Abnormality of dental enamel 50% Abnormality of the pupil 50% Diabetes mellitus 50% Glaucoma 50% Insulin resistance 50% Malar flattening 50% Megalocornea 50% Microdontia 50% Neurological speech impairment 50% Weight loss 50% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Frontal bossing 7.5% Hand polydactyly 7.5% Hypertelorism 7.5% Hypoplasia of the zygomatic bone 7.5% Myotonia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Posterior embryotoxon 7.5% Prominent supraorbital ridges 7.5% Telecanthus 7.5% Triangular face 7.5% Wide nasal bridge 7.5% Abnormality of the immune system - Autosomal dominant inheritance - Birth length less than 3rd percentile - Cataract - Chin dimple - Clinodactyly - Delayed eruption of teeth - Delayed skeletal maturation - Delayed speech and language development - Dental malocclusion - Enlarged epiphyses - Glucose intolerance - Hyperglycemia - Hypodontia - Inguinal hernia - Insulin-resistant diabetes mellitus - Intrauterine growth retardation - Joint laxity - Lipodystrophy - Macrotia - Myopia - Prominent forehead - Radial deviation of finger - Rieger anomaly - Small for gestational age - Thin skin - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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] |
What are the genetic changes related to mandibulofacial dysostosis with microcephaly ?
|
MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules. EFTUD2 gene mutations that cause MFDM result in the production of little or no functional enzyme from one copy of the gene in each cell. A shortage of this enzyme likely impairs mRNA processing. The relationship between these mutations and the specific symptoms of MFDM is not well understood.
|
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How to diagnose Stargardt disease ?
|
Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about genetic testing for this condition should speak with their ophthalmologist or a genetics professional.
|
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What are the treatments for Erb-Duchenne and Dejerine-Klumpke Palsies ?
|
Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.
|
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What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ?
|
IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development before birth. Researchers are working to determine how these genetic changes underlie the bone abnormalities, adrenal gland underdevelopment, and other signs and symptoms of this condition. People inherit one copy of most genes from their mother and one copy from their father. For most genes, both copies are fully turned on (active) in cells. The CDKN1C gene, however, is most active when it is inherited from a person's mother. The copy of CDKN1C inherited from a person's father is active at much lower levels in most tissues. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting. When genomic imprinting reduces the activity of the copy of a gene inherited from the father, that gene is said to be paternally imprinted.
|
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] |
Is Bloom syndrome inherited ?
|
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
|
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15
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what research (or clinical trials) is being done for Colorectal Cancer ?
|
Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements.
New ways to prevent colorectal cancer are being studied in clinical trials.
Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for colon cancer prevention trials or rectal cancer prevention trials that are now accepting patients.
|
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